A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient. (Q47848461)

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27 January 2020

title

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient (English)

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27 January 2020

0 references

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4

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Inas Mazen

series ordinal

1

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27 January 2020

Mona El Gammal

series ordinal

2

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27 January 2020

author name string

M Abdel-Hamid

series ordinal

3

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publication date

9 April 2009

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Molecular Genetics and Metabolism

27 January 2020

published in

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volume

97

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page(s)

305-308

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issue

4

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Global and societal implications of the diabetes epidemic

27 January 2020

cites work

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Congenital leptin deficiency is associated with severe early-onset obesity in humans

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A leptin missense mutation associated with hypogonadism and morbid obesity.

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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

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A frameshift mutation in MC4R associated with dominantly inherited human obesity

7 January 2021

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A frameshift mutation in human MC4R is associated with a dominant form of obesity

7 January 2021

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Identification and functional analysis of novel human melanocortin-4 receptor variants

7 January 2021

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Several Mutations in the Melanocortin-4 Receptor Gene Including a Nonsense and a Frameshift Mutation Associated with Dominantly Inherited Obesity in Humans

7 January 2021

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Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene

7 January 2021

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Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

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Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

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Structural organization and chromosomal assignment of the human obese gene

7 January 2021

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Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

7 January 2021

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Sequence variants in the 5' flanking region of the leptin gene are associated with obesity in women

7 January 2021

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Structure-function studies of human leptin

7 January 2021

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Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin,

7 January 2021

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Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

7 January 2021

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Sparing effect of leptin on liver glycogen stores in rats during the fed-to-fasted transition.

7 January 2021

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10.1016/J.YMGME.2009.04.002

7 January 2021

Identifiers

DOI

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27 January 2020

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